Detection of Type II Hair Keratin Gene in a Family with Monilethrix

The study investigated mutations in the type II human basic hair keratin gene (hHb/KRTHB) in a family with monilethrix. Researchers obtained peripheral blood samples from the family, amplified all exons of hHb1 and hHb6 using PCR, and sequenced the products. They found a G/C heteropeak in exon 1 of the hHb1 gene, encoding Arginine at position 52, which differed from the Glycine found in 50 unrelated normal individuals and in GenBank. This change was identified as a nonsynonymous cSNP (154th G/C, G52R). The study concluded that a pathogenic gene in this family was different from the 10 previously reported mutations in the hHb gene.